ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.660C>G (p.Ile220Met)

gnomAD frequency: 0.00001  dbSNP: rs782771682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797585 SCV000937149 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 220 of the G6PD protein (p.Ile220Met). This variant is present in population databases (rs782771682, gnomAD no frequency). This missense change has been observed in individual(s) with G6PD-related symptoms (PMID: 21637675, 28028996). ClinVar contains an entry for this variant (Variation ID: 643800). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt G6PD protein function with a positive predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Dunham Lab, University of Washington RCV000797585 SCV002599215 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in unrelated hemizygotes with G6PD deficiency and anemia (PS4_M, PP4). Decreased activity in red blood cells (64%) (PS3). Below expected carrier frequency in gnomAD (PM2). Post_P 0.988 (odds of pathogenicity 729.3, Prior_P 0.1).

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